Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP929884.RAth8p18l6N0cekJiMbcGgXJKQbn4oiZUOtEVtues9kco130_assertion> ?p ?o ?g. }
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- NP929884.RAth8p18l6N0cekJiMbcGgXJKQbn4oiZUOtEVtues9kco130_assertion type Assertion NP929884.RAth8p18l6N0cekJiMbcGgXJKQbn4oiZUOtEVtues9kco130_head.
- NP929884.RAth8p18l6N0cekJiMbcGgXJKQbn4oiZUOtEVtues9kco130_assertion wasGeneratedBy ECO_0000203 NP929884.RAth8p18l6N0cekJiMbcGgXJKQbn4oiZUOtEVtues9kco130_provenance.
- NP929884.RAth8p18l6N0cekJiMbcGgXJKQbn4oiZUOtEVtues9kco130_assertion wasDerivedFrom befree-20150227 NP929884.RAth8p18l6N0cekJiMbcGgXJKQbn4oiZUOtEVtues9kco130_provenance.
- NP929884.RAth8p18l6N0cekJiMbcGgXJKQbn4oiZUOtEVtues9kco130_assertion SIO_000772 15358621 NP929884.RAth8p18l6N0cekJiMbcGgXJKQbn4oiZUOtEVtues9kco130_provenance.
- NP929884.RAth8p18l6N0cekJiMbcGgXJKQbn4oiZUOtEVtues9kco130_assertion evidence source_evidence_literature NP929884.RAth8p18l6N0cekJiMbcGgXJKQbn4oiZUOtEVtues9kco130_provenance.
- NP929884.RAth8p18l6N0cekJiMbcGgXJKQbn4oiZUOtEVtues9kco130_assertion description "[The hyper immunoglobulin M (IgM) syndrome (HIGM), characterized by recurrent infections, low serum IgG and IgA, normal or elevated IgM, and defective class switch recombination and somatic hypermutation, is a heterogenous disorder with at least 5 distinct molecular defects, including mutations of the genes coding for the CD40 ligand (CD40L) and IKK-gamma (NEMO) genes, both X-linked; and mutations of CD40, activation-induced cytidine deaminase (AICDA), and uracil-DNA glycosylase (UNG), associated with autosomal recessive HIGM syndromes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP929884.RAth8p18l6N0cekJiMbcGgXJKQbn4oiZUOtEVtues9kco130_provenance.